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1 underlying molecular mechanisms in this rare genodermatosis.
2 t skin and mucosal erosions that typify this genodermatosis.
3 e high incidence of tumors complicating this genodermatosis.
4 r and poor prognosis of these tumors in this genodermatosis.
5 to Kindler syndrome, an autosomal-recessive genodermatosis.
6 rrelations towards understanding this severe genodermatosis.
7 for desmoplakin in the pathogenesis of this genodermatosis.
9 c epidermolysis bullosa (RDEB) is a lifelong genodermatosis associated with blistering, wounding, and
10 r predisposition syndrome (TPDS) is a cancer genodermatosis associated with high risk of uveal and cu
13 chia congenita (PC) is an autosomal dominant genodermatosis caused by heterozygous mutations in any o
14 in 6 patients with Kindler syndrome (KS), a genodermatosis caused by loss of kindlin-1 (encoded by F
15 idermolysis bullosa (RDEB) is a debilitating genodermatosis caused by loss-of-function mutations in C
16 osa (RDEB), a currently incurable blistering genodermatosis caused by loss-of-function mutations in C
17 Netherton syndrome (NS) is a rare and severe genodermatosis caused by SPINK5 mutations leading to the
18 -Dube syndrome (BHD), an inherited autosomal genodermatosis characterized by benign tumors of the hai
19 Bart's syndrome was initially described as a genodermatosis characterized by congenital localized abs
20 pidermolysis bullosa (RDEB) is a devastating genodermatosis characterized by dysfunctional collagen V
21 h Neutropenia (PN) is an autosomal recessive genodermatosis characterized by early-onset poikiloderma
22 keratoderma (EPPK) is an autosomal dominant genodermatosis characterized by epidermolytic hyperkerat
23 d individuals with a new autosomal recessive genodermatosis characterized by focal and diffuse palmop
24 ogg-Dube syndrome (BHD) is a rare, inherited genodermatosis characterized by hair follicle hamartomas
25 kin syndrome (PSS) is an autosomal recessive genodermatosis characterized by lifelong, continuous she
27 Hermansky-Pudlak syndrome (HPS) is a rare genodermatosis characterized by oculocutaneous albinism,
28 todermia variabilis is an autosomal dominant genodermatosis characterized by persistent plaque-like o
29 Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by reticulate pigmentation
30 Epidermodysplasia verruciformis (EV) is a genodermatosis characterized by the inability of keratin
31 s a severe, generalized, autosomal recessive genodermatosis characterized clinically by large, parchm
32 l cell carcinoma syndrome (MHIBCC) is a rare genodermatosis in which numerous indolent, well-differen
33 oric atresia (EB-PA), an autosomal recessive genodermatosis, manifests with neonatal cutaneous bliste
34 lip/palate (AEC) syndrome is a debilitating genodermatosis marked by skin erosions and caused by dom
36 is a severe, male-lethal, X-linked, dominant genodermatosis resulting from loss-of-function mutations
37 hose of incontinentia pigmenti (IP), a human genodermatosis, synthenic with the IKK gamma/NEMO locus.
38 Kindler syndrome is an autosomal recessive genodermatosis that results from mutations in the FERMT1
40 n-Smith Disease, is a rare cancer-associated genodermatosis with an autosomal dominant inheritance.
41 upre-Christol syndrome (BDCS)-a cancer-prone genodermatosis with an X-linked, dominant inheritance pa
42 (EKV, OMIM 133200) is an autosomal dominant genodermatosis with considerable intra- and interfamilia
43 Hailey-Hailey disease (HHD) is a chronic genodermatosis with recurrent vesicles and erosions main
44 other allele, the consequences are a severe genodermatosis with specific clinical manifestations.